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Sequence-example-fda-comparisons

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile MolecularSequence.


Generated Narrative

id: fda-vcf-comparison

coordinateSystem: 1

patient: Generated Summary: id: example; Medical record number = 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); -unknown-(HOME), ph: (03) 5555 6473(WORK), ph: (03) 3410 5613(MOBILE), ph: (03) 5555 8834(OLD); gender: male; birthDate: 1974-12-25;

ReferenceSeqs

-ReferenceSeqIdStrandWindowStartWindowEnd
*NC_000001.11watson10453101770080

Variants

-StartEndObservedAlleleReferenceAllele
*1311613117TG

Qualities

-TypeStandardSequenceStartEndScoreMethodTruthTPTruthFNQueryFPGtFPPrecisionFScore
*unknownfile-BkZxBZ00bpJVk2q6x43b1YBx104531017700805.000VCF Comparison1294813168150721860.98850.9823

Repositories

-TypeUrlName
*loginhttps://precision.fda.gov/comparisons/1850FDA

 

 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.